rs737054

This is a coding sequence variant variant in the FKBP5 gene.

ClinVar annotation

likely_risk_allele
1 submitter

Susceptibility to severe depressive disorder

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Research that mentions this SNP (3)

Relationship between FKBP5 polymorphisms and depression symptoms among kidney transplant recipients
AssociationN=1,084Gen Shinozaki et al.(2011)· Depression and Anxiety

This case-control and follow-up study examined associations of FKBP4 and FKBP5 gene polymorphisms with disease susceptibility, glucocorticoid efficacy, depression, anxiety, and health-related quality of life in 541 SLE patients and 543 healthy controls. FKBP5 gene polymorphisms were associated with depression (rs4713904, rs9368878, rs7757037) and glucocorticoid efficacy in SLE patients. FKBP4 and FKBP5 polymorphisms were associated with improvements in health-related quality of life after treatment.

Traits studied:AnxietyDepressionGlucocorticoid efficacyHealth-related quality of lifeLupus nephritisSystemic lupus erythematosus (SLE) susceptibility
Characterization of a glucocorticoid receptor gene (GR, NR3C1) promoter polymorphism reveals functionality and extends a haplotype with putative clinical relevance
AssociationN=951Robert Kumsta et al.(2009)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This study examined gene-environment (G×E) interactions between HPA axis variants (CRHR1, NR3C1, FKBP5) and childhood trauma on anxiety sensitivity in South African adolescents (n=951). Significant associations and interactions were found in gender- and ethnicity-specific analyses, including FKBP5 rs9296158 (p=0.025) and rs737054 (p=0.045) in Coloured males, and protective effects of NR3C1 rs190488 (p=0.009) and rs10482605 (p=0.036) with increasing trauma in Xhosa participants.

Traits studied:Anxiety disordersAnxiety sensitivityChildhood trauma
Association of <emph type="ital">FKBP5</emph> Polymorphisms and Childhood Abuse With Risk of Posttraumatic Stress Disorder Symptoms in Adults
AssociationN=762Binder EB et al.(2008)· JAMA

This cross-sectional study of 762 African American adults found that four FKBP5 SNPs (rs9296158, rs3800373, rs1360780, rs9470080; minimum P=0.0004) significantly interacted with severity of childhood abuse to predict adult PTSD symptoms, independent of non-child abuse trauma exposure, depression severity, age, sex, and genetic ancestry. The SNPs showed no main effects on PTSD or interactions with non-child abuse trauma, suggesting a specific gene-by-childhood-environment interaction mechanism.

Traits studied:Childhood AbuseDepressionPosttraumatic Stress Disorder (PTSD)

About FKBP5

The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds to the immunosuppressants FK506 and rapamycin. It is thought to mediate calcineurin inhibition. It also interacts functionally with mature hetero-oligomeric progesterone receptor complexes along with the 90 kDa heat shock protein and P23 protein. This gene has been found to have multiple polyadenylation sites. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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